A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112136



Internal ID18925790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136268339..136269436hg38UCSC Ensembl
Outerchr6:136589477..136590574hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3399n106
Supporting Variantsnssv3970137, nssv3989233
SamplesKWS1, KWS2
Known GenesBCLAF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112136
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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